Gaba(a) Receptor Beta3 (GABRB3) Antibody – Mouse Monoclonal

GABRB3: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Defects in GABRB3 are associated with chronic insomnia, a condition of inability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition. Defects in GABRB3 are the cause of childhood absence epilepsy type 5 (ECA5). ECA5 is a subtype of idiopathic generalized epilepsy (IGE) characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Transporter, ion channel; Membrane protein, integral; Channel, ligand-gated; Transporter; Channel, chloride

Cellular Component: postsynaptic membrane; membrane; integral to plasma membrane; plasma membrane; integral to membrane; terminal button; synapse; cell junction

Molecular Function: chloride channel activity; GABA-A receptor activity; ion channel activity; extracellular ligand-gated ion channel activity; GABA-gated chloride ion channel activity

Biological Process: sensory perception of sound; inner ear receptor cell development; transport; regulation of neuron apoptosis; synaptic transmission, GABAergic; neuron development; ion transport; chloride transport; palate development; negative regulation of neuron apoptosis; signal transduction; gamma-aminobutyric acid signaling pathway